Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

Affiliations

¹ MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
² Department of Neurology, Southend University Hospital NHS Foundation Trust, Essex, UK; Department of Neurology, The Royal London Hospital, Barts Health NHS Trust, London, UK.
³ Department of Neurology, Southend University Hospital NHS Foundation Trust, Essex, UK; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
⁴ Cellular Pathology, The Royal London Hospital, Barts Health NHS Trust, London, UK; Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
⁵ Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.
⁶ Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK; Department of Chemical Pathology, Great Ormond Street Hospital, London, UK.
⁷ MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK.
⁸ MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: r.pitceathly@ucl.ac.uk.

PMID: 30743023
DOI: 10.1016/j.mito.2019.02.004

Review

Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

Olivia V Poole et al. Mitochondrion. 2019 Jul.

. 2019 Jul:47:294-297.

doi: 10.1016/j.mito.2019.02.004. Epub 2019 Feb 8.

Authors

Affiliations

¹ MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
² Department of Neurology, Southend University Hospital NHS Foundation Trust, Essex, UK; Department of Neurology, The Royal London Hospital, Barts Health NHS Trust, London, UK.
³ Department of Neurology, Southend University Hospital NHS Foundation Trust, Essex, UK; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
⁴ Cellular Pathology, The Royal London Hospital, Barts Health NHS Trust, London, UK; Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
⁵ Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, UK.
⁶ Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK; Department of Chemical Pathology, Great Ormond Street Hospital, London, UK.
⁷ MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London, UK.
⁸ MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK. Electronic address: r.pitceathly@ucl.ac.uk.

PMID: 30743023
DOI: 10.1016/j.mito.2019.02.004

Abstract

Adult-onset Leigh syndrome is a rare but important manifestation of mitochondrial disease. We report a 17 year old female who presented with subacute encephalopathy, brainstem and extrapyramidal signs, raised CSF lactate, and symmetrical hyperintensities in the basal ganglia on T2-weighted cerebral MRI. The presence of cytochrome c oxidase deficient fibres in muscle tissue prompted sequencing of the entire mitochondrial genome which revealed the novel stop codon mutation m.6579G>A; p.Gly226X in MT-CO1. Here we present the case and review the clinicopathological and molecular spectrum of previously reported MT-CO1 truncating mutations.

Keywords: Cytochrome c oxidase; Leigh syndrome; MT-CO1.

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Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

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Adult-onset Leigh syndrome linked to the novel stop codon mutation m.6579G>A in MT-CO1

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